DBASS5 - Record Details
| Gene |
ITGA2B (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Glanzmann thrombasthenia (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+7
|
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| Mutation | E1+220G>A | Change in the Reading Frame |
+1
|
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| Reference(s) |
Gonzalez-manchon, E., Arias-Salgado, G.E., Butta, N., Martin, G., Rodriguez, R.B., Elalamy, I., Parrilla, R., Favier, R. (2003) A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia. J Thromb. Haemost., 5, 1071-1078. Pub Med Article # 12871379 |
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| Nucleotide Sequence[a] | gaaaagactt cctgtggagg aatctgaagg gaaggaggag gagctggccc ATTCCTGCCT GGGAGGTTGT GGAAGAAGGA AGATGGCCAG AGCTTTGTGT CCACTGCAAG CCCTCTGGCT TCTGGAGTGG GTGCTGCTGC TCTTGGGACC TTGTGCTGCC CCTCCAGCCT GGGCCTTGAA CCTGGACCCA GTGCAGCTCA CCTTCTATGC AGGCCCCAAT GGCAGCCAGT TTGGATTTTC ACTGGACTTC CACAAGGACA GCCATGGGA( G>A)gtgagc c/gtaaggga agttggggta ttgggagaga gcaggacccc tccccatcac tgcttctggg ggcttcgagt ttcccatttg cgatagcagt | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
8.70
|
5.46
|
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| Maximum Dependence Decomposition Model [2] |
12.28
|
10.88
|
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| First Order Markov Model [1] |
9.33
|
6.27
|
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| Weight Matrix Model [1] |
5.73
|
5.73
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr17:44389278/44389279 |
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| Mutation |
chr17:44389286 |
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Legend
- [a] /, cryptic or de novo splice sites; > nucleotide substitutions; (), deletions; [], duplications or insertions. Intronic sequences are in lower case (in blue), exons are in upper case (in green)
- [b] Shapiro and Senapathy matrix scores were calculated according to an algorithm published previously (1). Maximum entropy and the first-order Markov and weight matrix models were computed as described (2)
References
- Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
- Yeo, G. and Burge, C.B. (2004) Maximum entropy modelling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol., 11, 377-394.
- Burge, C. 1998. Modeling dependencies in pre-mRNA splicing signals. In Computational methods in molecular biology (eds. S.L. Salzberg et al.), chapter 8, pp. 129–164. Elsevier Science, Philadelphia, PA.